A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

Mov Disord. 2020 May;35(5):896-899. doi: 10.1002/mds.28023. Epub 2020 Mar 20.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyclic Nucleotide Phosphodiesterases, Type 2
  • Homozygote
  • Humans
  • Mutation / genetics
  • Phenotype
  • Rett Syndrome* / genetics

Substances

  • Cyclic Nucleotide Phosphodiesterases, Type 2
  • PDE2A protein, human